Canonical Allele Identifier: CA3146872

Gene: AGA

Linked Data

• dbSNP Id: rs746993909
• ExAC: 4:178358515 TTAAC / T
• gnomAD v2: 4-178358515-TTAAC-T
• gnomAD v4: 4-177437361-TTAAC-T
• MyVariant Identifiers: chr4:g.178358516_178358519del (hg19) ; chr4:g.177437362_177437365del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437365_177437368del , CM000666.2:g.177437365_177437368del	GRCh38
NC_000004.11:g.178358519_178358522del , CM000666.1:g.178358519_178358522del	GRCh37
NC_000004.10:g.178595513_178595516del	NCBI36
NG_011845.2:g.10139_10142del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.622+40_622+43del MANE Select	ENSP00000264595.2:n.622+40_622+43del
ENST00000264595.6:c.622+40_622+43del	ENSP00000264595.2:n.622+40_622+43del
ENST00000502310.5:c.277+40_277+43del	ENSP00000423798.1:n.277+40_277+43del
ENST00000506853.5:n.656+40_656+43del
ENST00000510635.1:c.318+40_318+43del
ENST00000510955.5:n.583_586del
NM_000027.3:c.622+40_622+43del	NP_000018.2:n.622+40_622+43del
NM_001171988.1:c.622+40_622+43del	NP_001165459.1:n.622+40_622+43del
NR_033655.1:n.750+40_750+43del
XM_006714123.2:c.622+40_622+43del	XP_006714186.1:n.622+40_622+43del
XR_001741155.2:n.716+40_716+43del
NM_000027.4:c.622+40_622+43del MANE Select	NP_000018.2:n.622+40_622+43del
NM_001171988.2:c.622+40_622+43del	NP_001165459.1:n.622+40_622+43del
NR_033655.2:n.684+40_684+43del